dystonia

Pyroluria is a genetic condition that is frequently associated with a type of anxiety characterized by social anxiety, avoidance of crowds, a feeling of inner tension, and bouts of depression. People with this problem experience varying degrees of anxiety or fear, often starting in childhood, but they usually manage to cover it up and push through. They tend to build their life around one person, become more of a loner over time, have difficulty handling stress or change, and have heightened anxiety symptoms when under more stress.

Addressing low levels of the mineral zinc and vitamin B6, together with some other nutrients and stress management, are key to addressing these symptoms.

Joan Mathews-Larson is someone who I consider an expert on the subject of pyroluria. In her book Depression-Free Naturally, she reports the prevalence as follows: 11 percent of the healthy population, 40 percent of adults with psychiatric disorders, 25 percent of children with psychiatric disorders, 30 percent of people with schizophrenia, and 40 percent of alcoholics.

Abram Hoffer worked primarily with schizophrenic patients, but he found pyroluria was also present in 25 percent of his nonschizophrenic patients, including adults with anxiety, depression, and alcoholism, and children with learning disorders and behavioral disorders.

According to McGinnis, pyroluria is also present in about 46 percent of people with autism spectrum disorders and 71 percent of those with Down syndrome.

I work primarily with adult women who are anxious, depressed, or both and have found that at least 80 percent of my clients with moderate to severe anxiety have a large number of pyroluria symptoms.

I thought it would be useful to summarize the above percentages for some clarity. I used some educated guesses to get some ranges we may expect to see. Keep in mind that the differing percentages are because of the different populations each practitioner works with:

Thin Basement Membrane Disease (an inherited collagen/connective tissue disorder diagnosed via kidney biopsy). Someone contacted me during season 3 of the Anxiety Summit and said she has pyroluria and TBMD. She shared that the pyroluria protocol helped with her TBMD symptoms.

Other factors/conditions to consider:

Miscarriage – Carl Pfeiffer observed that pyroluria is more common in girls and that girls in the family often look alike. It seems that boy babies are more frequently miscarried

MTHFR defects – I have been hearing that many people with pyroluria also have one or both of the MTHFR polymorphisms. We know that methylation polymorphisms are a factor in miscarriages and it would be interesting to know if more boys are miscarried.

Other conditions that have a social anxiety aspect, a possible neurotransmitter imbalance with a likely pyroluria connection. These came up as questions during season 3 of the Anxiety Summit and I’ll report back as I find out more:

Alice in Wonderland Syndrome. I don’t know if there is there a connection between pyroluria and Alice in Wonderland Syndrome (where the person sees large or small objects/people and often has migraines). I had never heard of this condition but my quick search had me wondering about the word “hallucinations.” The original work by Carl Pfeiffer was with schizophrenics who had pyroluria so it’s possible that there is a connection.

Selective mutism I also don’t know if there is a connection between pyroluria and selective mutism. We do know that selective mutism often goes hand in hand with anxiety and social anxiety.

Both young girls with the above conditions did score high on the pyroluria questionnaire and it will be wonderful to hear if the pyroluria protocol helps them. I really do hope so!

I will be doing more digging to find the connections between pyroluria and Lyme disease, leaky gut and oxalate issues. I also plan to take a deeper dive into the joint problems we see in pyrolurics so stay tuned for future blogs on these topics.

If you’re aware of any other conditions related to pyroluria or if have pyroluria and have seen other health conditions improve, please do share in the comments.

Genetic variation in the oxytocin receptor gene (OXTR) has been implicated in anxiety, depression and related stress phenotypes

I mentioned my aminos and pyroluria interview with Sean Croxton on the upcoming Depression Sessions (an online video series) in June. He is an introvert and is fascinated with pyroluria-introversion connection. I said I’d share a link to the Depression Sessions but the site isn’t quite ready so please stay tuned. I’ll share it in a few days. This one is not to be missed.

There are some precautions to be aware of when taking supplemental amino acids. Here are the Amino Acid Precautions

The 8 factors that make the amino acids more effective:

addressing blood sugar issues and eating real whole food

the brand and quality

timing i.e. between meals and away from protein

your unique amount for your own need

addressing bipolar or bipolar-type symptoms

using the pyroluria protocol at the same time (if needed)

addressing thyroid health and hormonal health

taking the amino acids opened up

Thanks to Dr. Josh Friedman, Integrative Psychotherapist, for the interview. As I mentioned, I interviewed him on season 1 of the Anxiety summit on: “Integrative Psychotherapy: My Journey from Psychoanalysis to Whole Person Mental Health.” If you missed it, I highly recommend it. Dr. Friedman is dear friend, colleague and integrative psychotherapist who uses amino acids and other nutritional approaches in his practice. During our season 1 interview I asked him if he uses GABA with his patients and I love his answer:

it is definitely something I use. I am not a biochemist, so I actually don’t really know whether it crosses the blood/brain barrier, nor do I care actually. the first question should be, is it harmful? Are any of these things going to cause harm? And the answer with all the amino acids are no, they’re not going to cause harm, especially when compared to psychiatric medicines. The second question is, does it work? Is it helpful for our patients that we see in our practice?

As we mentioned, it has the amino acid questionnaire, pyroluria questionnaire and all the protocols BUT does not contain the 21+ pyroluria touble-shooting checklist (see the separate blog post for this)

If you are not already registered for the Anxiety Summit you can get live access to the speakers of the day here: www.theAnxietySummit.com

Missed this interview or can’t listen live? Or want this and the other great interviews for your learning library? Purchase the MP3s or MP3s + transcripts and listen when it suits you.

In May 2014 a gentleman named Jay asked this question on my Pyroluria Questionnaire blog: “have you come across a connection between pyroluria and focal musician’s dystonia (musician’s cramp)?

I responded saying “I have not and until I looked it up I was not aware of this condition. I’m curious why you’re asking? Do you or someone you know have symptoms of pyroluria and focal musician’s dystonia?”

I’m a very curious person and always turn to the research and like to look for connections. I started to dig and came across the The Dystonia Society, a UK based organization that provides support, advocacy and information for anyone affected by the neurological movement condition known as dystonia. They have this definition on the About Dystonia page:

Dystonia is a neurological movement disorder. Faulty signals from the brain cause muscles to spasm and pull on the body incorrectly. This forces the body into twisting, repetitive movements or abnormal postures.

The various types of dystonia are listed and they discuss managing symptoms and say:

Remission from symptoms does sometimes occur but is rare – occurring in around 5-10% of cases.

I posted some feedback, starting a dialogue (both in the comments and via email) that led to me learning a whole lot more about dystonia and the finding out there does seem to be a connection to pyroluria, a social anxiety condition that is not well-recognized in the medical or mental health community. Symptoms include inner tension and discomfort in big groups. Many introverts relate to the symptoms of pyroluria too.

In the process Jay saw wonderful results, we heard from Dave and his success. And we’re getting to share this information in the hope of helping others like him and Dave.

Much of the information is buried in comments on various blogs so I’ve decided it needs a separate blog post – with the connections and research I discovered and some of the inspiring feedback from Jay and Dave.

This is most of what I originally posted (with a few slight revisions).

I do see some overlaps with dystonia and mood so it’s possible there is a connection between pyroluria and musician’s dystonia:

(1) The Dystonia Society is a wealth of information and has this on their mental health page: “it is now thought that people affected by dystonia are more likely to experience mental health conditions such as depression, anxiety and OCD even before the physical symptoms of dystonia appear. It is not known why this is – but it appears that whatever causes dystonia may also affect mood and behaviour in some way.” Now I wonder how common social anxiety is for those with dystonia?

(2) “An additional relation between dystonia and mental health conditions is that some drugs used to treat psychoses can cause tardive dystonia / dyskinesia. With the new generation of these drugs (called dopamine receptor blockers) this is much less likely than it used to be – but unfortunately a small risk remains.” (this is also from the above dystonia page)

(4) If you have pyroluria, you’ll also have low levels of zinc and vitamin B6, key co-factors in making serotonin and GABA and other neurotransmitters which affect anxiety and depression.

(5) Depression, anxiety, pyroluria and dystonia have a possible autoimmune/gluten/diet connection. This paper “Movement disorders in autoimmune diseases” discusses how “Tremors, dystonia, chorea, ballism, myoclonus, parkinsonism, and ataxia may be the initial and even the only presentation of these autoimmune diseases.” And here is a case study where the dystonia resolved on a gluten-free diet: “She had complete resolution of her neurological symptoms with introduction of a gluten-free diet.” We know gluten can damage the gut and lead to low levels of nutrients such as zinc and also cause low serotonin.

I’m so pleased Jay asked this question. I learned a lot by looking in to this initially and since then have learned a great deal more.

And take a look at the fabulous results Jay and Dave saw when they implemented only the pyroluria protocol (the starting dose I use with clients is 100mg vitamin B6 and 30mg zinc and 1300mg Evening Primrose Oil):

From Jay in June 2014

I started taking B6 (Pyridoxine Hydrochloride) 120mg and Zinc USP 60mg 2 weeks ago and do find some relief already. As you may have guessed, I have had dystonia for a long time and had to put a professional musician’s career on hold, and when I read your site, I found that I have a large number of symptoms from your list – I am hopeful.

From Jay in September 2014

I think it is, at this point, safe to say that the pyroluria treatment is, at least in my case, the cure for pyroluria and dystonia. 90%+ of my symptoms have disappeared, I am working extensively on repertoire and I am thinking about getting back into performing.

Dave in September 2014

just writing here to say that i too have battled focal dystonia over the past 8+ years. actually started as writer’s cramp and then worked it’s way into my guitar playing. about 3 years ago i noticed symptoms lessened based on different things i ate and shortly after came across pyroluria. in all questionairs i answer yes to most if not all questions.

anyway, for the past 2 years i’ve been on zinc and b6 and have had vast improvements. for me, the muscle disorders don’t go away without retraining, but the b6 and especially zinc make retraining much more successful. however, sometimes i do hit the jackpot and my hands work almost normal without the efforts of retraining. my dose fluctuates between 25-60 mg zinc and 50-100 mg b6 which i seem to have more trouble taking. i also experimented with methyl b12 but that led to a very painful rash.

the funny thing about all of this is that i feel nowadays that focal dystonia was only the canary in the coal mine for other symptoms that paid little or no attention to because i was only focused on being a musician. as a result of taking supplements most of those other symptoms are much better and i’m soooooo close now to having proper movement in my fingers.

it’s really great to see what you and jay have posted here because it really validates what i’ve been doing. i too believe there are many that can be helped by this.

Jay in October 2014

I am so happy to read this dystonia related success story!After my own experience, I still say an experience akin to rebirth as a musician and also as a person, this was the reason for me to post on this blog – to help get this out to musicians who are victims of dystonia and inadequate medical treatment.

We’re hoping we can generate some interest from various dystonia organizations/groups/forums and help more musicians find symptom resolution – certainly more than the 5-10% the Dystonia Society reports. The more people reporting success, the more likely approaches like this will be studied, accepted by the mainstream medical community and included on sites like the Dystonia Society.

If you relate to any of this please do comment and let us know what your results have been.

If you know someone with musician’s dystonia (or another form of dystonia) and pyroluria/social anxiety please do share this with them.